S7N (p.Ser7Asn) variant of MAGED2 (Melanoma-associated antigen D2)
S7N (p.Ser7Asn) in MAGED2 (Melanoma-associated antigen D2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- gnomAD X-54809351-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.03
- CADD 16.40
- PolyPhen-2 0.04
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available